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NM_007294.4(BRCA1):c.5075-6C>A AND Hereditary breast ovarian cancer syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 28, 2024
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000416553.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.5075-6C>A]

NM_007294.4(BRCA1):c.5075-6C>A

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5075-6C>A
HGVS:
  • NC_000017.11:g.43063957G>T
  • NG_005905.2:g.154027C>A
  • NM_001407571.1:c.4862-6C>A
  • NM_001407581.1:c.5141-6C>A
  • NM_001407582.1:c.5141-6C>A
  • NM_001407583.1:c.5138-6C>A
  • NM_001407585.1:c.5138-6C>A
  • NM_001407587.1:c.5138-6C>A
  • NM_001407590.1:c.5135-6C>A
  • NM_001407591.1:c.5135-6C>A
  • NM_001407593.1:c.5075-6C>A
  • NM_001407594.1:c.5075-6C>A
  • NM_001407596.1:c.5075-6C>A
  • NM_001407597.1:c.5075-6C>A
  • NM_001407598.1:c.5075-6C>A
  • NM_001407602.1:c.5075-6C>A
  • NM_001407603.1:c.5075-6C>A
  • NM_001407605.1:c.5075-6C>A
  • NM_001407610.1:c.5072-6C>A
  • NM_001407611.1:c.5072-6C>A
  • NM_001407612.1:c.5072-6C>A
  • NM_001407613.1:c.5072-6C>A
  • NM_001407614.1:c.5072-6C>A
  • NM_001407615.1:c.5072-6C>A
  • NM_001407616.1:c.5072-6C>A
  • NM_001407617.1:c.5072-6C>A
  • NM_001407618.1:c.5072-6C>A
  • NM_001407619.1:c.5072-6C>A
  • NM_001407620.1:c.5072-6C>A
  • NM_001407621.1:c.5072-6C>A
  • NM_001407622.1:c.5072-6C>A
  • NM_001407623.1:c.5072-6C>A
  • NM_001407624.1:c.5072-6C>A
  • NM_001407625.1:c.5072-6C>A
  • NM_001407626.1:c.5072-6C>A
  • NM_001407627.1:c.5069-6C>A
  • NM_001407628.1:c.5069-6C>A
  • NM_001407629.1:c.5069-6C>A
  • NM_001407630.1:c.5069-6C>A
  • NM_001407631.1:c.5069-6C>A
  • NM_001407632.1:c.5069-6C>A
  • NM_001407633.1:c.5069-6C>A
  • NM_001407634.1:c.5069-6C>A
  • NM_001407635.1:c.5069-6C>A
  • NM_001407636.1:c.5069-6C>A
  • NM_001407637.1:c.5069-6C>A
  • NM_001407638.1:c.5069-6C>A
  • NM_001407639.1:c.5069-6C>A
  • NM_001407640.1:c.5069-6C>A
  • NM_001407641.1:c.5069-6C>A
  • NM_001407642.1:c.5069-6C>A
  • NM_001407644.1:c.5066-6C>A
  • NM_001407645.1:c.5066-6C>A
  • NM_001407646.1:c.5063-6C>A
  • NM_001407647.1:c.5060-6C>A
  • NM_001407648.1:c.5018-6C>A
  • NM_001407649.1:c.5015-6C>A
  • NM_001407652.1:c.5075-584C>A
  • NM_001407653.1:c.4997-6C>A
  • NM_001407654.1:c.4997-6C>A
  • NM_001407655.1:c.4997-6C>A
  • NM_001407656.1:c.4994-6C>A
  • NM_001407657.1:c.4994-6C>A
  • NM_001407658.1:c.4994-6C>A
  • NM_001407659.1:c.4991-6C>A
  • NM_001407660.1:c.4991-6C>A
  • NM_001407661.1:c.4991-6C>A
  • NM_001407662.1:c.4991-6C>A
  • NM_001407663.1:c.4991-6C>A
  • NM_001407664.1:c.4952-6C>A
  • NM_001407665.1:c.4952-6C>A
  • NM_001407666.1:c.4952-6C>A
  • NM_001407667.1:c.4952-6C>A
  • NM_001407668.1:c.4952-6C>A
  • NM_001407669.1:c.4952-6C>A
  • NM_001407670.1:c.4949-6C>A
  • NM_001407671.1:c.4949-6C>A
  • NM_001407672.1:c.4949-6C>A
  • NM_001407673.1:c.4949-6C>A
  • NM_001407674.1:c.4949-6C>A
  • NM_001407675.1:c.4949-6C>A
  • NM_001407676.1:c.4949-6C>A
  • NM_001407677.1:c.4949-6C>A
  • NM_001407678.1:c.4949-6C>A
  • NM_001407679.1:c.4949-6C>A
  • NM_001407680.1:c.4949-6C>A
  • NM_001407681.1:c.4946-6C>A
  • NM_001407682.1:c.4946-6C>A
  • NM_001407683.1:c.4946-6C>A
  • NM_001407684.1:c.5075-6C>A
  • NM_001407685.1:c.4946-6C>A
  • NM_001407686.1:c.4946-6C>A
  • NM_001407687.1:c.4946-6C>A
  • NM_001407688.1:c.4946-6C>A
  • NM_001407689.1:c.4946-6C>A
  • NM_001407690.1:c.4943-6C>A
  • NM_001407691.1:c.4943-6C>A
  • NM_001407692.1:c.4934-6C>A
  • NM_001407694.1:c.4934-6C>A
  • NM_001407695.1:c.4934-6C>A
  • NM_001407696.1:c.4934-6C>A
  • NM_001407697.1:c.4934-6C>A
  • NM_001407698.1:c.4934-6C>A
  • NM_001407724.1:c.4934-6C>A
  • NM_001407725.1:c.4934-6C>A
  • NM_001407726.1:c.4934-6C>A
  • NM_001407727.1:c.4934-6C>A
  • NM_001407728.1:c.4934-6C>A
  • NM_001407729.1:c.4934-6C>A
  • NM_001407730.1:c.4934-6C>A
  • NM_001407731.1:c.4934-6C>A
  • NM_001407732.1:c.4931-6C>A
  • NM_001407733.1:c.4931-6C>A
  • NM_001407734.1:c.4931-6C>A
  • NM_001407735.1:c.4931-6C>A
  • NM_001407736.1:c.4931-6C>A
  • NM_001407737.1:c.4931-6C>A
  • NM_001407738.1:c.4931-6C>A
  • NM_001407739.1:c.4931-6C>A
  • NM_001407740.1:c.4931-6C>A
  • NM_001407741.1:c.4931-6C>A
  • NM_001407742.1:c.4931-6C>A
  • NM_001407743.1:c.4931-6C>A
  • NM_001407744.1:c.4931-6C>A
  • NM_001407745.1:c.4931-6C>A
  • NM_001407746.1:c.4931-6C>A
  • NM_001407747.1:c.4931-6C>A
  • NM_001407748.1:c.4931-6C>A
  • NM_001407749.1:c.4931-6C>A
  • NM_001407750.1:c.4931-6C>A
  • NM_001407751.1:c.4931-6C>A
  • NM_001407752.1:c.4931-6C>A
  • NM_001407838.1:c.4928-6C>A
  • NM_001407839.1:c.4928-6C>A
  • NM_001407841.1:c.4928-6C>A
  • NM_001407842.1:c.4928-6C>A
  • NM_001407843.1:c.4928-6C>A
  • NM_001407844.1:c.4928-6C>A
  • NM_001407845.1:c.4928-6C>A
  • NM_001407846.1:c.4928-6C>A
  • NM_001407847.1:c.4928-6C>A
  • NM_001407848.1:c.4928-6C>A
  • NM_001407849.1:c.4928-6C>A
  • NM_001407850.1:c.4928-6C>A
  • NM_001407851.1:c.4928-6C>A
  • NM_001407852.1:c.4928-6C>A
  • NM_001407853.1:c.4928-6C>A
  • NM_001407854.1:c.5075-6C>A
  • NM_001407858.1:c.5072-6C>A
  • NM_001407859.1:c.5072-6C>A
  • NM_001407860.1:c.5072-6C>A
  • NM_001407861.1:c.5069-6C>A
  • NM_001407862.1:c.4874-6C>A
  • NM_001407863.1:c.4949-584C>A
  • NM_001407874.1:c.4868-6C>A
  • NM_001407875.1:c.4868-6C>A
  • NM_001407879.1:c.4865-6C>A
  • NM_001407881.1:c.4865-6C>A
  • NM_001407882.1:c.4865-6C>A
  • NM_001407884.1:c.4865-6C>A
  • NM_001407885.1:c.4865-6C>A
  • NM_001407886.1:c.4865-6C>A
  • NM_001407887.1:c.4865-6C>A
  • NM_001407889.1:c.4865-6C>A
  • NM_001407894.1:c.4862-6C>A
  • NM_001407895.1:c.4862-6C>A
  • NM_001407896.1:c.4862-6C>A
  • NM_001407897.1:c.4862-6C>A
  • NM_001407898.1:c.4862-6C>A
  • NM_001407899.1:c.4862-6C>A
  • NM_001407900.1:c.4862-6C>A
  • NM_001407902.1:c.4862-6C>A
  • NM_001407904.1:c.4862-6C>A
  • NM_001407906.1:c.4862-6C>A
  • NM_001407907.1:c.4862-6C>A
  • NM_001407908.1:c.4862-6C>A
  • NM_001407909.1:c.4862-6C>A
  • NM_001407910.1:c.4862-6C>A
  • NM_001407915.1:c.4859-6C>A
  • NM_001407916.1:c.4859-6C>A
  • NM_001407917.1:c.4859-6C>A
  • NM_001407918.1:c.4859-6C>A
  • NM_001407919.1:c.4952-6C>A
  • NM_001407920.1:c.4811-6C>A
  • NM_001407921.1:c.4811-6C>A
  • NM_001407922.1:c.4811-6C>A
  • NM_001407923.1:c.4811-6C>A
  • NM_001407924.1:c.4811-6C>A
  • NM_001407925.1:c.4811-6C>A
  • NM_001407926.1:c.4811-6C>A
  • NM_001407927.1:c.4808-6C>A
  • NM_001407928.1:c.4808-6C>A
  • NM_001407929.1:c.4808-6C>A
  • NM_001407930.1:c.4808-6C>A
  • NM_001407931.1:c.4808-6C>A
  • NM_001407932.1:c.4808-6C>A
  • NM_001407933.1:c.4808-6C>A
  • NM_001407934.1:c.4805-6C>A
  • NM_001407935.1:c.4805-6C>A
  • NM_001407936.1:c.4805-6C>A
  • NM_001407937.1:c.4952-6C>A
  • NM_001407938.1:c.4952-6C>A
  • NM_001407939.1:c.4949-6C>A
  • NM_001407940.1:c.4949-6C>A
  • NM_001407941.1:c.4946-6C>A
  • NM_001407942.1:c.4934-6C>A
  • NM_001407943.1:c.4931-6C>A
  • NM_001407944.1:c.4931-6C>A
  • NM_001407945.1:c.4931-6C>A
  • NM_001407946.1:c.4742-6C>A
  • NM_001407947.1:c.4742-6C>A
  • NM_001407948.1:c.4742-6C>A
  • NM_001407949.1:c.4742-6C>A
  • NM_001407950.1:c.4739-6C>A
  • NM_001407951.1:c.4739-6C>A
  • NM_001407952.1:c.4739-6C>A
  • NM_001407953.1:c.4739-6C>A
  • NM_001407954.1:c.4739-6C>A
  • NM_001407955.1:c.4739-6C>A
  • NM_001407956.1:c.4736-6C>A
  • NM_001407957.1:c.4736-6C>A
  • NM_001407958.1:c.4736-6C>A
  • NM_001407959.1:c.4694-6C>A
  • NM_001407960.1:c.4691-6C>A
  • NM_001407962.1:c.4691-6C>A
  • NM_001407963.1:c.4688-6C>A
  • NM_001407964.1:c.4613-6C>A
  • NM_001407965.1:c.4568-6C>A
  • NM_001407966.1:c.4187-6C>A
  • NM_001407967.1:c.4184-6C>A
  • NM_001407968.1:c.2471-6C>A
  • NM_001407969.1:c.2468-6C>A
  • NM_001407970.1:c.1832-6C>A
  • NM_001407971.1:c.1832-6C>A
  • NM_001407972.1:c.1829-6C>A
  • NM_001407973.1:c.1766-6C>A
  • NM_001407974.1:c.1766-6C>A
  • NM_001407975.1:c.1766-6C>A
  • NM_001407976.1:c.1766-6C>A
  • NM_001407977.1:c.1766-6C>A
  • NM_001407978.1:c.1766-6C>A
  • NM_001407979.1:c.1763-6C>A
  • NM_001407980.1:c.1763-6C>A
  • NM_001407981.1:c.1763-6C>A
  • NM_001407982.1:c.1763-6C>A
  • NM_001407983.1:c.1763-6C>A
  • NM_001407984.1:c.1763-6C>A
  • NM_001407985.1:c.1763-6C>A
  • NM_001407986.1:c.1763-6C>A
  • NM_001407990.1:c.1763-6C>A
  • NM_001407991.1:c.1763-6C>A
  • NM_001407992.1:c.1763-6C>A
  • NM_001407993.1:c.1763-6C>A
  • NM_001408392.1:c.1760-6C>A
  • NM_001408396.1:c.1760-6C>A
  • NM_001408397.1:c.1760-6C>A
  • NM_001408398.1:c.1760-6C>A
  • NM_001408399.1:c.1760-6C>A
  • NM_001408400.1:c.1760-6C>A
  • NM_001408401.1:c.1760-6C>A
  • NM_001408402.1:c.1760-6C>A
  • NM_001408403.1:c.1760-6C>A
  • NM_001408404.1:c.1760-6C>A
  • NM_001408406.1:c.1757-6C>A
  • NM_001408407.1:c.1757-6C>A
  • NM_001408408.1:c.1757-6C>A
  • NM_001408409.1:c.1754-6C>A
  • NM_001408410.1:c.1691-6C>A
  • NM_001408411.1:c.1688-6C>A
  • NM_001408412.1:c.1685-6C>A
  • NM_001408413.1:c.1685-6C>A
  • NM_001408414.1:c.1685-6C>A
  • NM_001408415.1:c.1685-6C>A
  • NM_001408416.1:c.1685-6C>A
  • NM_001408418.1:c.1649-6C>A
  • NM_001408419.1:c.1649-6C>A
  • NM_001408420.1:c.1649-6C>A
  • NM_001408421.1:c.1646-6C>A
  • NM_001408422.1:c.1646-6C>A
  • NM_001408423.1:c.1646-6C>A
  • NM_001408424.1:c.1646-6C>A
  • NM_001408425.1:c.1643-6C>A
  • NM_001408426.1:c.1643-6C>A
  • NM_001408427.1:c.1643-6C>A
  • NM_001408428.1:c.1643-6C>A
  • NM_001408429.1:c.1643-6C>A
  • NM_001408430.1:c.1643-6C>A
  • NM_001408431.1:c.1643-6C>A
  • NM_001408432.1:c.1640-6C>A
  • NM_001408433.1:c.1640-6C>A
  • NM_001408434.1:c.1640-6C>A
  • NM_001408435.1:c.1640-6C>A
  • NM_001408436.1:c.1640-6C>A
  • NM_001408437.1:c.1640-6C>A
  • NM_001408438.1:c.1640-6C>A
  • NM_001408439.1:c.1640-6C>A
  • NM_001408440.1:c.1640-6C>A
  • NM_001408441.1:c.1640-6C>A
  • NM_001408442.1:c.1640-6C>A
  • NM_001408443.1:c.1640-6C>A
  • NM_001408444.1:c.1640-6C>A
  • NM_001408445.1:c.1637-6C>A
  • NM_001408446.1:c.1637-6C>A
  • NM_001408447.1:c.1637-6C>A
  • NM_001408448.1:c.1637-6C>A
  • NM_001408450.1:c.1637-6C>A
  • NM_001408451.1:c.1631-6C>A
  • NM_001408452.1:c.1625-6C>A
  • NM_001408453.1:c.1625-6C>A
  • NM_001408454.1:c.1625-6C>A
  • NM_001408455.1:c.1625-6C>A
  • NM_001408456.1:c.1625-6C>A
  • NM_001408457.1:c.1625-6C>A
  • NM_001408458.1:c.1622-6C>A
  • NM_001408459.1:c.1622-6C>A
  • NM_001408460.1:c.1622-6C>A
  • NM_001408461.1:c.1622-6C>A
  • NM_001408462.1:c.1622-6C>A
  • NM_001408463.1:c.1622-6C>A
  • NM_001408464.1:c.1622-6C>A
  • NM_001408465.1:c.1622-6C>A
  • NM_001408466.1:c.1622-6C>A
  • NM_001408467.1:c.1622-6C>A
  • NM_001408468.1:c.1619-6C>A
  • NM_001408469.1:c.1619-6C>A
  • NM_001408470.1:c.1619-6C>A
  • NM_001408472.1:c.1763-6C>A
  • NM_001408473.1:c.1760-6C>A
  • NM_001408474.1:c.1565-6C>A
  • NM_001408475.1:c.1562-6C>A
  • NM_001408476.1:c.1562-6C>A
  • NM_001408478.1:c.1556-6C>A
  • NM_001408479.1:c.1556-6C>A
  • NM_001408480.1:c.1556-6C>A
  • NM_001408481.1:c.1553-6C>A
  • NM_001408482.1:c.1553-6C>A
  • NM_001408483.1:c.1553-6C>A
  • NM_001408484.1:c.1553-6C>A
  • NM_001408485.1:c.1553-6C>A
  • NM_001408489.1:c.1553-6C>A
  • NM_001408490.1:c.1553-6C>A
  • NM_001408491.1:c.1553-6C>A
  • NM_001408492.1:c.1550-6C>A
  • NM_001408493.1:c.1550-6C>A
  • NM_001408494.1:c.1526-6C>A
  • NM_001408495.1:c.1520-6C>A
  • NM_001408496.1:c.1502-6C>A
  • NM_001408497.1:c.1502-6C>A
  • NM_001408498.1:c.1502-6C>A
  • NM_001408499.1:c.1502-6C>A
  • NM_001408500.1:c.1502-6C>A
  • NM_001408501.1:c.1502-6C>A
  • NM_001408502.1:c.1499-6C>A
  • NM_001408503.1:c.1499-6C>A
  • NM_001408504.1:c.1499-6C>A
  • NM_001408505.1:c.1496-6C>A
  • NM_001408506.1:c.1439-6C>A
  • NM_001408507.1:c.1436-6C>A
  • NM_001408508.1:c.1427-6C>A
  • NM_001408509.1:c.1424-6C>A
  • NM_001408510.1:c.1385-6C>A
  • NM_001408511.1:c.1382-6C>A
  • NM_001408512.1:c.1262-6C>A
  • NM_001408513.1:c.1235-6C>A
  • NM_001408514.1:c.839-6C>A
  • NM_007294.4:c.5075-6C>AMANE SELECT
  • NM_007297.4:c.4934-6C>A
  • NM_007298.4:c.1763-6C>A
  • NM_007299.4:c.1763-6C>A
  • NM_007300.4:c.5138-6C>A
  • LRG_292t1:c.5075-6C>A
  • LRG_292:g.154027C>A
  • NC_000017.10:g.41215974G>T
  • NM_007294.2:c.5075-6C>A
  • NM_007294.3:c.5075-6C>A
Nucleotide change:
IVS17-6C>A
Links:
dbSNP: rs397507240
NCBI 1000 Genomes Browser:
rs397507240
Molecular consequence:
  • NM_001407571.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.5141-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.5141-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.5138-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.5138-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.5138-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.5135-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.5135-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.5066-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.5066-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.5063-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.5060-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.5018-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.5015-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.5075-584C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.4997-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.4997-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.4997-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.4994-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4994-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4994-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.4991-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.4991-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4991-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4991-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4991-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4943-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4943-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.4928-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.5072-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.5069-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.4874-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4949-584C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.4868-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.4868-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.4865-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.4865-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.4865-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.4865-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.4865-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.4865-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.4865-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.4865-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.4862-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.4859-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.4859-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.4859-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.4859-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.4811-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.4811-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.4811-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.4811-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.4811-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.4811-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.4811-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.4808-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.4808-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.4808-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.4808-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.4808-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.4808-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.4808-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.4805-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.4805-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.4805-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.4952-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.4949-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4946-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4931-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.4742-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.4742-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.4742-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.4742-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.4739-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.4739-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.4739-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.4739-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.4739-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.4739-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.4736-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.4736-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.4736-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.4694-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.4691-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.4691-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.4688-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4613-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.4568-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.4187-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.4184-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.2471-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.2468-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.1832-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.1832-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.1829-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.1766-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.1766-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.1766-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.1766-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.1766-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.1766-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.1757-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.1757-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.1757-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.1754-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.1691-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.1688-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.1685-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.1685-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.1685-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.1685-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.1685-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.1649-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.1649-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.1649-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.1646-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.1646-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.1646-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.1646-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.1643-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.1643-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.1643-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.1643-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.1643-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.1643-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.1643-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.1640-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.1637-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.1637-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.1637-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.1637-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.1637-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.1631-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.1625-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.1625-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.1625-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.1625-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.1625-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.1625-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.1622-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.1619-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.1619-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.1619-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.1760-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.1565-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.1562-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.1562-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.1556-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.1556-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.1556-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.1553-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.1553-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.1553-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.1553-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.1553-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.1553-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.1553-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.1553-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.1550-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.1550-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.1526-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.1520-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.1502-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.1502-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.1502-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.1502-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.1502-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.1502-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.1499-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.1499-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.1499-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.1496-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.1439-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.1436-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.1427-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.1424-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.1385-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.1382-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.1262-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.1235-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.839-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.5075-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4934-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1763-6C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.5138-6C>A - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000549298Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 28, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001737450St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(May 27, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000549298.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV001737450.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 c.5075-6C>A intronic change results from a a C to A substitution at the +6 position of intron 16 of the BRCA1 gene. Splice predictors are not inclusive as to whether or not this variant affects splicing and loss of function of the resulting protein product. Internal RNA data cannot conclusively determine the impact of this variant based on a low number of mutant reads (internal data). This variant is absent in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/). This variant is absent in the FLOSSIES database which contains genetic variants from women older than 70 years of age who have never had cancer (https://whi.color.com/). In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_Supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024